Genetic profile of 81 retinoblastoma patients from a referral hospital in southern India.
Indian J Ophthalmol
;
2001 Mar; 49(1): 37-42
Article
in English
| IMSEAR
| ID: sea-72530
ABSTRACT
PURPOSE:
To determine chromosomal abnormalities and inheritance pattern in patients with retinoblastoma from a referral hospital in southern India. MATERIALS ANDMETHODS:
Eighty-one retinoblastoma patients from 78 families were included in this study. Peripheral venous blood was taken for chromosomal analysis and pedigree was ascertained for segregation analysis.RESULTS:
Male to female ratio was 1.71, 55.56% were bilateral retinoblastoma, the mean age of onset was 12.37 months in bilateral and 33.07 months in unilateral cases (p=0.048). Majority (90.12%) had sporadic inheritance and 6.17% had autosomal dominant inheritance. In chromosomal abnormalities, 8.33% had 13q14 deletion, three cases had de novo balanced translocations.CONCLUSION:
The age of onset of the disease was much earlier in the bilateral cases compared to unilateral cases. Sporadic inheritance was predominant while only a small percentage of patients had autosomal dominant inheritance. The percentage of patients with 13q14 deletion was higher than reported in the literature and three novel chromosomal translocations were observed. This is one of the largest series of cases reported from India.
Full text:
Available
Index:
IMSEAR (South-East Asia)
Main subject:
Pedigree
/
Referral and Consultation
/
Retinoblastoma
/
Translocation, Genetic
/
Chromosomes, Human, Pair 13
/
Female
/
Humans
/
Male
/
Infant, Newborn
/
Child
Type of study:
Observational study
/
Prevalence study
Country/Region as subject:
Asia
Language:
English
Journal:
Indian J Ophthalmol
Year:
2001
Type:
Article
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